
TMCO1 Gene - GeneCards | TMCO1 Protein | TMCO1 Antibody
2024年12月25日 · TMCO1 (Transmembrane And Coiled-Coil Domains 1) is a Protein Coding gene. Diseases associated with TMCO1 include Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 and Pulmonic Stenosis.
CELL | TMCO1:内质网中的钙过载激活钙离子通道 - 南模生物
2016年5月25日 · 研究表明TMCO1缺陷综合征(TMCO1基因功能缺失性突变)会导致颅面畸形、骨骼异常、精神发育迟缓、共济失调和许多其他的临床症状,与CFT 发育不良(cerebro-facio-thoracic dysplasia)相关。
TMCO1 Is an ER Ca2+ Load-Activated Ca2+ Channel: Cell - Cell …
2016年6月2日 · TMCO1 is an ER membrane channel that detects overfilling of calcium stores and restores calcium homeostasis, a function that is disrupted in human CFT dysplasia.
TMCO1-mediated Ca2+ leak underlies osteoblast functions via
2019年4月8日 · Transmembrane and coiled-coil domain 1 (TMCO1) have been reported to be a highly conserved, transmembrane-spanning protein located in the ER 10. Loss of TMCO1 function has been identified...
TMCO1 通过 TOMM20 调节肝细胞癌细胞的能量代谢和线粒体功 …
本研究主要揭示了内质网跨膜和卷曲螺旋结构域 1 (tmco1) 在肝细胞癌 (hcc) 的调节机制中的作用。 通过 Transwell 检测侵袭和迁移能力,以及 TMCO1 和 TOMM20 过表达和敲低后伤口愈合,通过活性氧 (ROS) 、线粒体通透性转换孔 (mPTP) 、线粒体膜电位 (MMP) 和 ...
TMCO1 gene - MedlinePlus
The TMCO1 gene provides instructions for making a protein that forms specialized structures called channels through which positively charged calcium atoms (calcium ions) flow. The protein is found in the membrane of a cell structure called the endoplasmic reticulum, which acts as a storage center for calcium ions.
TMCO1 is upregulated in breast cancer and regulates the ... - Nature
2024年10月1日 · In this study, we link the overexpression of TMCO1 with prognosis in node-positive basal breast cancer patients. We also identify interacting proteins of TMCO1, which include endoplasmic...
TMCO1 Is an ER Ca (2+) Load-Activated Ca (2+) Channel - PubMed
2016年6月2日 · We show that TMCO1 is an ER transmembrane protein that actively prevents Ca(2+) stores from overfilling, acting as what we term a "Ca(2+) load-activated Ca(2+) channel" or "CLAC" channel. TMCO1 undergoes reversible homotetramerization in response to ER Ca(2+) overloading and disassembly upon Ca(2+) depletion and forms a Ca(2+)-selective ion ...
TMCO1 is essential for ovarian follicle development by regulating …
TMCO1 (transmembrane and coiled-coil domains 1) is an endoplasmic reticulum (ER) transmembrane protein that actively prevents Ca 2+ stores from overfilling. To characterize its physiological function(s), we generated Tmco1-/-knockout (KO) mice.
跨膜和卷曲螺旋结构域 1(TMCO1)基因 | MCE
This gene has 8 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 19.0), thyroid (RPKM 18.0) and 25 other tissues. 该基因座编码跨膜蛋白。 该位点的突变与颅面畸形、骨骼异常和认知障碍有关。 该位点的突变也与开角型青光眼失明有关。 已经描述了选择性剪接的转录物变体。 [RefSeq 提供,2012 年 1 月] This locus encodes a transmembrane protein.